Recurrent pseudo-TORCH appearances of the brain presenting as "Dandy-Walker" malformation

Pediatr Dev Pathol. 2012 Jan-Feb;15(1):45-9. doi: 10.2350/10-01-0783-CR.1. Epub 2011 Jul 15.

Abstract

Dandy-Walker malformation (DWM) is a developmental abnormality characterized by cystic dilatation of the fourth ventricle, complete or partial agenesis of the cerebellar vermis, and enlarged posterior fossa with upward displacement of the lateral sinuses, tentorium, and torcula. Calcification of brain tissue is a feature of congenital infection, particularly those involving the TORCH ( Toxoplasma gondii , rubella virus, Cytomegalovirus, and herpesvirus) group. An autosomal-recessive congenital infection-like syndrome with intracranial and extracranial calcifications has been categorized as pseudo-TORCH syndrome. We describe two male siblings diagnosed as DWM by ultrasound and by in utero and postmortem magnetic resonance imaging (MRI) but in whom the neuropathology revealed features of intracranial necrosis and calcification in the absence of extracranial calcific deposition. The fetal anomaly was identified by routine prenatal ultrasound scan at 16 weeks. In both cases the postmortem MRI showed bilateral ventriculomegaly with distortion of the overlying cortices, enlarged posterior fossa with a cyst related to small cerebellar hemispheres, and an incomplete cerebellar vermis. The diagnosis of DWM was offered. The histology revealed hypoplastic cerebral hemispheres with poorly cellular developing cortex. The white matter and periventricular matrix were disrupted by areas of necrosis and calcification not associated with any inflammatory infiltration, organisms, inclusions, or giant cells. To our knowledge, these two male siblings are the 1st cases that show pseudo-TORCH syndrome with distinctive intracranial calcification presenting as DWM. An autosomal-recessive or X-linked inheritance needs to be considered. Our study confirms the relevance of the multidisciplinary teamwork involved in the diagnosis of these complex cases.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / diagnostic imaging
  • Brain / abnormalities*
  • Calcinosis / diagnosis*
  • Calcinosis / etiology
  • Dandy-Walker Syndrome / diagnosis*
  • Dandy-Walker Syndrome / diagnostic imaging
  • Diagnosis, Differential
  • Encephalitis, Viral / diagnosis*
  • Encephalitis, Viral / etiology
  • Fatal Outcome
  • Gestational Age
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Necrosis
  • Recurrence
  • Siblings
  • Ultrasonography, Prenatal